Gene
rdh12
- ID
- ZDB-GENE-040718-9
- Name
- retinol dehydrogenase 12
- Symbol
- rdh12 Nomenclature History
- Previous Names
-
- wu:fj43a10
- zgc:92430
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Is expressed in several structures, including brain; eye; gut; heart; and skeletal muscle cell. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 13 and Leber hereditary optic neuropathy. Orthologous to human RDH11 (retinol dehydrogenase 11) and RDH12 (retinol dehydrogenase 12).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 10 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:92430 (9 images)
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Sarkar et al., 2021
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Leber congenital amaurosis 13 | Alliance | Leber congenital amaurosis 13 | 612712 |
?Retinal dystrophy, juvenile cataracts, and short stature syndrome | 616108 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | NAD(P)-binding domain superfamily | Short-chain dehydrogenase/reductase SDR |
---|---|---|---|
UniProtKB:Q6DG78
|
319 |
Interactions and Pathways
No data available
Plasmids
No data available